Canonical Allele Identifier: CA240669

Gene: PEX1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499777G>A , CM000669.2:g.92499777G>A	GRCh38
NC_000007.13:g.92129091G>A , CM000669.1:g.92129091G>A	GRCh37
NC_000007.12:g.91967027G>A	NCBI36
NG_008341.1:g.33755C>T
NG_008341.2:g.33755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2645C>T MANE Select	ENSP00000248633.4:p.Pro882Leu
ENST00000248633.8:c.2645C>T	ENSP00000248633.4:p.Pro882Leu
ENST00000428214.5:c.2474C>T	ENSP00000394413.1:p.Pro825Leu
ENST00000438045.5:c.1679C>T	ENSP00000410438.1:p.Pro560Leu
ENST00000484913.5:n.2684C>T
ENST00000496420.5:n.2537C>T
NM_000466.2:c.2645C>T	NP_000457.1:p.Pro882Leu
NM_001282677.1:c.2474C>T	NP_001269606.1:p.Pro825Leu
NM_001282678.1:c.2021C>T	NP_001269607.1:p.Pro674Leu
XM_005250433.3:c.896C>T	XP_005250490.1:p.Pro299Leu
XR_242246.3:n.2741C>T
XM_017012319.2:c.896C>T	XP_016867808.1:p.Pro299Leu
XR_001744808.2:n.1672C>T
XR_242246.5:n.2692C>T
NM_000466.3:c.2645C>T MANE Select	NP_000457.1:p.Pro882Leu
NM_001282677.2:c.2474C>T	NP_001269606.1:p.Pro825Leu
NM_001282678.2:c.2021C>T	NP_001269607.1:p.Pro674Leu